GFAP mutations in Alexander disease.

Abstract excerpt

Alexander disease is a rare but often fatal disease of the central nervous system. Infantile, juvenile and adult forms have been described that present with different clinical signs, but are unified by the characteristic presence in astrocytes of Rosenthal fibers-protein aggregates that contain glial fibrillary acidic protein (GFAP) and small stress proteins. The chance discovery that mice expressing a human GFAP...

Topics

• Alexander Disease
• Animals
• Astrocytes
• Central Nervous System
• Cytoskeleton
• Genetic Predisposition to Disease
• Glial Fibrillary Acidic Protein
• Humans
• Models, Neurological
• Mutation